Hiperferritinemia aislada en un lactante sano: síndrome hereditario de hiperferritinemia y cataratas

Bravo, Áurea Cervera; Planas, M. Sebastián; Alarabe, A Alarabe; Sáenz, Astorga; Egea, Moreno; Balas, A.

doi:10.1016/s1695-4033(00)77336-x

Cited by 7 publications

(2 citation statements)

References 13 publications

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“…A genetic study was performed in the index case, in one affected brother and in the non-affected sister. Gene amplification and sequencing approaches have been previously described for the IRE analysis of an unrelated Spanish family (9,12). Both the index case and her affected brother were carriers of a single point mutation (C→T) at position 33 of IRE region in the L-chain ferritin gene.…”

Section: Clinical Reportmentioning

confidence: 99%

“…The syndrome is inherited as a Mendelian dominant trait and is not associated with iron overload. To this date, several affected families have been identified in different European countries (7,8), including Spain (9,10), and in other non-European regions (11), although the syndrome seems to be quite unusual. We report on a new affected family in Spain.…”

Section: Introductionmentioning

confidence: 99%

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Hereditary hyperferritinemia-cataract syndrome: Study of a new family in Spain

Ladero

Balas²,

García‐Sánchez³

et al. 2004

Rev. esp. enferm. dig.

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The hyperferritinemia-cataract syndrome, inherited as a Mendelian dominant trait, is due to mutations in the 5' non-coding region of the ferritin light chain gene that modifies the shape of the IRE (iron responsive element) region, which loses its normal function of regulating the synthesis of ferritin light chains. Excess of light chains results in complexes that accumulate into the lens giving rise to early cataracts. We present a Spanish family with seven affected members through three generations. A genetic study reveals a substitution of a single base (C→T) at position 33 in the IRE sequence in the index case and in one affected brother, whereas a non-affected sister shows the normal sequence. The hyperferritinemia-cataract syndrome was identified in 1995 and is still poorly understood. Clinicians should suspect it when treating any subject with early cataracts, even more if they are familial, or in patients with very high levels of ferritinemia without evidence of iron overload. There are no known consequences of the syndrome other than cataracts, and its proper diagnosis carries a favorable prognosis and eliminates the risk of unnecessary phlebotomies.

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Section: Clinical Reportmentioning

confidence: 99%